{"Name":"Cramp-fasciculation syndrome","DiseaseID__c":"GARD:0006205","id":6205,"encodedName":"cramp-fasciculation-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cramp-fasciculation syndrome","Xref_IDs__c":"C0751381; MEDGEN:148299; MONDO:0035586; ORPHA:581271","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0006205","Disease_Description__c":"Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles characterized by persistent muscle cramping and twitching (fasciculations) in otherwise healthy individuals. This can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to over-activity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition.","GARD_Name__c":"Cramp-fasciculation syndrome","GARD_Synonym__c":"benign fasciculation cramp syndrome; benign fasciculation-cramp syndrome; syndrome of foley and denny-brown","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:581271","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035586","ORPHANET_ID__c":"ORPHA:581271","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de calambres-fasciculaciones","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de calambres-fasciculaciones","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"benign fasciculation cramp syndrome; benign fasciculation-cramp syndrome; syndrome of foley and denny-brown","Name":"Cramp-fasciculation syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:581271"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006205","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751381","Source__c":"C0751381","Xref__c":"C0751381"},{"URL__c":"https://www.orpha.net/en/disease/detail/581271","Source__c":"C0751381; MONDO:0035586; ORPHA:581271","Xref__c":"ORPHA:581271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=148299","Source__c":"C0751381","Xref__c":"MEDGEN:148299"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035586","Source__c":"GARD:0006205","Xref__c":"MONDO:0035586"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230652001","Source__c":"C0751381","Xref__c":"230652001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["benign fasciculation cramp syndrome"," benign fasciculation-cramp syndrome"," syndrome of foley and denny-brown"]}